Variant (rsID / SNP)

rs41309088

rs41309088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP110. Location: chromosome 2, position 231,077,683. Clinical significance in the table: Benign.

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Reference-table entries

SP110Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:231077683
Cytoband: 2q37.1
HGVS: NM_080424.4(SP110):c.376G>A (p.Gly126Ser)
Allele change: Missense_G126S

Associated conditions / phenotypes

Hepatic veno-occlusive disease-immunodeficiency syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.